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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-030 - Unusual CNS manifestation

Authors: E Schuh, P Lohse, I Meinl, T Kümpfel

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Cryopyrin-associated periodic syndrome (CAPS) is a rare systemic, monogenetic inherited autoinflammatory condition caused by NLRP3/CIAS 1 gene mutations encoding for cryopyrin, a major component of the inflammasome, leading to an excessive production of interleukin-1beta (IL-1ß). The clinical picture of genetic variations of the NLRP3 inflammasome is characterized by recurrent episodes of systemic inflammation involving skin, joints, eyes and the central nervous system and shows variable penetrance regarding disease severity and symptoms. …
Literature
1.
Vitale A, Lucherini OM: Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clinical and Experimental Rheumatology. 2012
2.
Tarabishy Ahmad Bakir, Hise Amy G, Traboulsi Elias I: Ocular manifestations of the autoinflammatory syndromes. Ophtalmic genetics. 2012
3.
Kidd , Burton B, Plant GT, Graham EM: Chronic relapsing inflammatory optic neuropathy (CRION). Brain. 2003
Metadata
Title
P02-030 - Unusual CNS manifestation
Authors
E Schuh
P Lohse
I Meinl
T Kümpfel
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A137

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